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GlossaryTRPS1 gene

gene involved in bone, hair, and tissue development

The TRPS1 gene provides instructions for making a protein that plays a crucial role in the development of bones, hair, and other tissues. Mutations in this gene can lead to trichorhinophalangeal syndrome, a condition characterized by distinctive facial features, sparse hair, and abnormalities in the fingers and toes.

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research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

9 citations , May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

November 2024

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

1 citations , December 2018 in “Journal of genetic medicine”

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

research Genetics of Structural Hair Disorders

17 citations , November 2012 in “Journal of Investigative Dermatology”

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

July 2025 in “Clinical Case Reports”

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I

January 2013 in “International Journal of Trichology”

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

Generalized Hypertrichosis After 5% Minoxidil Solution in Trichorhinophalangeal Syndrome: A Case Report and Review of the Literature

research Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures

1 citations , January 2023 in “Indian Journal of Dermatology/Indian journal of dermatology”

5% minoxidil can significantly increase hair growth in TRPS patients.

research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient

9 citations , January 2017 in “Annals of Dermatology”

The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.

research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis

3 citations , April 2012 in “Bioinformation”

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

research Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1

January 2024 in “Pediatric Dermatology”

Minoxidil improved hair growth in a child with a rare genetic disorder.

research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

1 citations , January 2020 in “Skin appendage disorders”

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report

research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

August 2022 in “Journal of Comprehensive Pediatrics”

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

research Treatment of Hair Loss in the Trichorhinophalangeal Syndrome

4 citations , January 2018 in “Annals of dermatology/Annals of Dermatology”

Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.

TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

9 citations , April 2020 in “Journal of dermatology”

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

Integrating Single-Cell and Spatial Transcriptomics of Human Hair Follicles to Define Transcriptional Signature of Follicular Dermal Papilla

research 189 Integrating single-cell and spatial transcriptomics of human hair follicles to define transcriptional signature of follicular dermal papilla

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

The research identified specific genes that are active in the cells crucial for hair growth.

research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.

52 citations , July 2011 in “PubMed”

TRPS1 is crucial for bone, kidney, and hair follicle development.

research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

16 citations , March 2013 in “The Journal of Dermatology”

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

Accelerated Aging of Hair Follicles in Androgenetic Alopecia

research P02 Accelerated ageing of hair follicles in androgenetic alopecia

May 2024 in “British journal of dermatology/British journal of dermatology, Supplement”

Hair follicles in androgenetic alopecia age faster, especially in the front.

research 3: Multimodal Molecular Analysis Reveals Divergent Trajectories Of Wound Regeneration Versus Fibrosis

July 2021 in “Plastic and reconstructive surgery. Global open”

Verteporfin treatment in mice led to complete skin healing without scarring.

research プログラミング開発環境の変化と対策 (プログラム作りの環境 ) -- (実例:各社はこんな環境で生産性向上を図っている)

December 1981 in “ビジネスコミュニケ-ション”

TRPV1 affects sebaceous gland function and could help treat acne.

research Dynamic Transcriptome Profile Analysis of Mechanisms Related to Melanin Deposition in Chicken Muscle Development

2 citations , September 2024 in “Animals”

Key genes influence melanin in chicken muscles, affecting their value.

research TRPV Channels in Osteoarthritis: A Comprehensive Review

14 citations , February 2024 in “Biomolecules”

TRPV channels are important in osteoarthritis and could be key to new treatments.

research Palmitoylethanolamide-Incorporated Elastic Nano-Liposomes for Enhanced Transdermal Delivery and Anti-Inflammation

8 citations , June 2024 in “Pharmaceutics”

PEA-ENL improves skin delivery and reduces inflammation without side effects.

research Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia

46 citations , April 2016 in “Journal of Investigative Dermatology”

New genes found linked to balding, may help develop future treatments.

research Transcriptomic analysis reveals critical genes for the hair follicle of Inner Mongolia cashmere goat from catagen to telogen

25 citations , October 2018 in “PloS one”

Key genes regulate hair follicle phase changes in Inner Mongolia cashmere goats.